723551003: Trichothiodystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)

\Congenital anomaly of hair\Trichothiodystrophy (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425068010 Trichothiodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425069019 Trichothiodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3425070018 A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425071019 A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3979361000052118 trikotiodystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichothiodystrophy (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Trichothiodystrophy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Trichothiodystrophy (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Trichothiodystrophy (disorder)	Is a	Genetic defect of hair shaft (disorder)	true	Inferred relationship	Some
Trichothiodystrophy (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Trichothiodystrophy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Trichothiodystrophy (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Trichothiodystrophy (disorder)	Finding site	Hair shaft structure	false	Inferred relationship	Some	5
Trichothiodystrophy (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
Trichothiodystrophy (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Trichothiodystrophy (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Trichothiodystrophy (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Associated morphology	defekt	false	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trichothiodystrophy (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Is a	Congenital anomaly of hair	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Clastothrix	Is a	True	Trichothiodystrophy (disorder)	Inferred relationship	Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Is a	True	Trichothiodystrophy (disorder)	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Is a	True	Trichothiodystrophy (disorder)	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Trichothiodystrophy (disorder)	Inferred relationship	Some
Sabinas brittle hair syndrome (disorder)	Is a	True	Trichothiodystrophy (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3425068010	Trichothiodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425069019	Trichothiodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425070018	A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425071019	A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3979361000052118	trikotiodystrofi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)